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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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SEC61A2
SEC61 translocon subunit alpha 2
Chromosome 10 · 10p14
NCBI Gene: 55176Ensembl: ENSG00000065665.21HGNC: HGNC:17702UniProt: B3KQ68
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtransmembrane protein transporter activitySec61 translocon complexribosome bindinggoutDNA methylationtype 2 diabetes mellitusalcohol drinking
✦AI Summary

SEC61A2 encodes a subunit of the SEC61 translocon complex, which forms a gated pore in the endoplasmic reticulum (ER) membrane essential for cotranslational translocation of nascent polypeptides containing signal peptides. The protein functions as a ribosome receptor and transmembrane protein transporter, enabling SRP-dependent protein targeting and translocation across the ER membrane. Beyond its canonical translocation role, SEC61A2 exhibits pleiotropic functions. It participates in circadian-regulated collagen metabolism in skin fibroblasts, with Sec61a2 expression peaking during nighttime in the synthesis/secretion phase 1. SEC61A2 overexpression promotes apoptotic cell death in a p53-independent manner 2, suggesting a role in programmed cell death regulation. Clinically, SEC61A2 has emerged as a genetic locus associated with dementia with Lewy bodies (DLB) pathogenesis. A GWAS in Japanese subjects identified a DHTKD1 locus on chromosome 10 associated with SEC61A2 gene expression that demonstrates causal relationship with cholinesterase levels 3, linking SEC61A2 to DLB susceptibility. Additionally, SEC61A2 genetic variation influences metabolic responses to glucose-insulin-potassium therapy, with specific SNPs associated with potassium response in acute coronary syndrome treatment 4. These findings suggest SEC61A2 functions extend beyond protein translocation to include neurodegenerative disease pathogenesis and metabolic regulation.

Sources cited
1
DHTKD1 locus associated with SEC61A2 gene expression shows causal relationship with cholinesterase levels and DLB susceptibility in Japanese subjects
PMID: 40045203
2
Sec61a2 expression exhibits circadian regulation, peaking at night during collagen synthesis/secretion phase in skin fibroblasts
PMID: 41527525
3
SEC61A2 overexpression increases apoptotic cell death in a p53-independent manner
PMID: 27847434
4
SEC61A2 SNP associated with potassium response to glucose-insulin-potassium therapy in acute coronary syndromes
PMID: 25135348
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
goutOpen Targets
0.32Weak
DNA methylationOpen Targets
0.23Weak
type 2 diabetes mellitusOpen Targets
0.06Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
diabetes mellitusOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
diabetic neuropathyOpen Targets
0.03Suggestive
pseudohypoparathyroidism type 2Open Targets
0.03Suggestive
diabetic eye diseaseOpen Targets
0.03Suggestive
chondrocalcinosisOpen Targets
0.03Suggestive
Tietze syndromeOpen Targets
0.03Suggestive
type 2 diabetes nephropathyOpen Targets
0.02Suggestive
anaphylaxisOpen Targets
0.02Suggestive
coronary artery diseaseOpen Targets
0.02Suggestive
diabetic retinopathyOpen Targets
0.02Suggestive
intestinal diseaseOpen Targets
0.02Suggestive
COVID-19–associated multisystem inflammatory syndrome in adultsOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Pick diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DAD1Protein interaction100%DDOSTProtein interaction100%STT3AProtein interaction100%RPN1Protein interaction100%RPN2Protein interaction100%OXSR1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Liver
65%
Bone Marrow
57%
Heart
54%
Ovary
40%
Lung
26%
Gene Interaction Network
Click a node to explore
SEC61A2DAD1DDOSTSTT3ARPN1RPN2OXSR1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TC24
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.06Tolerant
Observed/Expected LoF0.45 [0.31–0.66]
RankingsWhere SEC61A2 stands among ~20K protein-coding genes
  • #10,395of 20,598
    Most Researched39
  • #4,799of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedSEC61A2
Sources retrieved4 papers
Response time—
📄 Sources
4
1
A genome-wide association study identifies a novel East Asian-specific locus for dementia with Lewy bodies in Japanese subjects.
PMID: 40045203
Mol Med · 2025
1.00
2
Genetic variation at glucose and insulin trait loci and response to glucose-insulin-potassium (GIK) therapy: the IMMEDIATE trial.
PMID: 25135348
Pharmacogenomics J · 2015
0.75
3
Targeting Circadian Rhythm for the Regulation of Skin Collagen Metabolism.
PMID: 41527525
J Cosmet Dermatol · 2026
0.50
4
Novel functional roles of caspase-related genes in the regulation of apoptosis and autophagy.
PMID: 27847434
Korean J Physiol Pharmacol · 2016
0.25